ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1187G>A (p.Arg396His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340472 SCV002635662 uncertain significance Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The p.R396H variant (also known as c.1187G>A), located in coding exon 9 of the SOS2 gene, results from a G to A substitution at nucleotide position 1187. The arginine at codon 396 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697217 SCV005196847 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005096683 SCV005825340 likely benign Noonan syndrome 9 2025-01-12 criteria provided, single submitter clinical testing

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